Structure of the human laminin α2-chain gene (LAMA2), which is affected in congenital muscular dystrophy

Abstract

We have determined the structure and complete exon size pattern of the human laminin α2-chain gene (LAMA2), which has been shown to be affected in congenital muscular dystrophy (Helbling-Leclerc, A., Zhang, X., Topaloglu, H., Cruaud, C., Tesson, F., Weissenbach, J., Tome, F. M. S., Schwartz, K., Fardeau, M., Tryggvason, K., and Guicheney, P. (1995) Nat. Genet. 11,216- 218). The gene is over 260,000 base pairs and contains 64 exons. The sequence of all exon-intron borders was determined. Two of the exons, i.e. exons 43 and 52, are extremely small in size, 6 and 12 base pairs, respectively. Comparison of the exon pattern of the human LAMA2 gene with that of the Drosophila LAMA gene revealed that only 2 of 83 intron locations in the 5'- end of the human gene match the intron locations in the Drosophila gene, which contains 14 introns.